Table 3.
Application | Genome research | Transcriptome research | Epigenetics research |
---|---|---|---|
Advantage | Closes gaps and completes genomes due to longer reads | Identifies full-length transcript isoforms without need for a reference genome | Detects modifications by monitoring kinetic variation |
Identifies non-SNP SVs | Detects novel isoforms and fusion events | Detects epigenetic motifs in low coverage settings and with mixed genomes | |
Achievements | Produced highly-contiguous assemblies of bacterial and eukaryotic genomes | Identified previously-unannotated human intron structures | Discovered new m6A and m4C MTases and methylation patterns in 6 bacteria |
Discovered STRs and mutations associated with FMR1, brain disease, cystic fibrosis, lung cancer, and respiratory diseases | Characterized alternative splicing events involved in the formation of blood cellular components | Detected m6A and m5C residues in Escherichia coli; deduced target sites of MTases that catalyze m6A modifications | |
Discovered CDKN2A deletion breakpoints in six cancer cell lines | Identified novel isoforms in hESC transcriptome using hybrid sequencing | Identified virulence factor genotype-dependent motifs in Helicobacter pylori | |
Characterized SVs in a personal diploid human genome | Quantified personal transcriptome, including novel isoforms, splice sites, and SNVs | Detected intercellular heterogeneity in genome DNA modifications in Streptococcus pneumoniae | |
Refs. | [7], [30], [31], [32], [33], [34], [40], [41], [43], [45], [46], [48], [50] | [55], [56], [58], [60], [63] | [35], [66], [67], [68], [70], [75], [76] |
Note: STR, short tandem repeat; FMR1, fragile X mental retardation 1; CDKN2A, cyclin-dependent kinase inhibitor 2A; SV, structural variation; SNV, single nucleotide variation; MTase, methyltransferase; hESC, human embryonic stem cell.